Variant (rsID / SNP)

rs121918334

rs121918334 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC25A22. Location: chromosome 11, position 792,429. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SLC25A22Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:792429
Cytoband: 11p15.5
HGVS: NM_001191061.2(SLC25A22):c.617C>T (p.Pro206Leu)
Allele change: Missense_P206L

Associated conditions / phenotypes

Early myoclonic encephalopathy|Early infantile epileptic encephalopathy with suppression bursts

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.